rs1554975332
|
1.000 |
|
11 |
819906 |
splice donor variant |
G/C
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
6 |
2008 |
2016 |
rs796065308
|
0.925 |
0.160 |
11 |
822522 |
frameshift variant |
-/C
|
delins
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
6 |
2008 |
2016 |
rs796065303
|
1.000 |
0.160 |
11 |
823740 |
frameshift variant |
C/-
|
delins
|
|
|
Neutral Lipid Storage Disease with Myopathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2007 |
2013 |
rs869320738
|
1.000 |
0.160 |
11 |
823588 |
splice donor variant |
G/T
|
snv
|
4.1E-06
|
|
Neutral Lipid Storage Disease with Myopathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2007 |
2017 |
rs140201358
|
|
|
11 |
823586 |
missense variant |
C/G;T
|
snv
|
8.9E-03;
8.3E-06
|
|
Waist-Hip Ratio
|
|
0.700 |
1.000 |
2 |
2019 |
2019 |
rs121918260
|
1.000 |
0.160 |
11 |
823801 |
stop gained |
C/T
|
snv
|
|
|
Neutral Lipid Storage Disease with Myopathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1565089992
|
1.000 |
0.160 |
11 |
824120 |
frameshift variant |
T/-
|
delins
|
|
|
Neutral Lipid Storage Disease with Myopathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397514625
|
1.000 |
0.160 |
11 |
823579 |
missense variant |
A/C;T
|
snv
|
4.1E-06
|
|
Neutral Lipid Storage Disease with Myopathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs777539013
|
1.000 |
0.160 |
11 |
823589 |
splice donor variant |
T/C
|
snv
|
4.1E-06
|
|
Neutral Lipid Storage Disease with Myopathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs796065304
|
1.000 |
0.160 |
11 |
823781 |
frameshift variant |
C/-
|
delins
|
|
|
Neutral Lipid Storage Disease with Myopathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs796065307
|
1.000 |
0.160 |
11 |
822002 |
frameshift variant |
C/-
|
delins
|
|
|
Neutral Lipid Storage Disease with Myopathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs796065308
|
0.925 |
0.160 |
11 |
822522 |
frameshift variant |
-/C
|
delins
|
|
|
Neutral Lipid Storage Disease with Myopathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs796065309
|
1.000 |
0.160 |
11 |
822452 |
frameshift variant |
C/-
|
delins
|
|
|
Neutral Lipid Storage Disease with Myopathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121918259
|
1.000 |
0.160 |
11 |
822494 |
missense variant |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
Neutral Lipid Storage Disease with Myopathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2007 |
2013 |
rs796065310
|
1.000 |
0.160 |
11 |
822000 |
frameshift variant |
-/CTCC
|
delins
|
4.0E-06
|
7.0E-06
|
Neutral Lipid Storage Disease with Myopathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs10902223
|
|
|
11 |
817786 |
upstream gene variant |
C/T
|
snv
|
|
0.46
|
Tonometry
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1138714
|
|
|
11 |
825110 |
3 prime UTR variant |
A/G
|
snv
|
|
0.47
|
Body Fat Distribution
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |